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NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 20, 2020
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000999295.23

Allele description [Variation Report for NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)]

NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)

Gene:
GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)
HGVS:
  • NC_000009.12:g.137158455G>T
  • NG_011507.1:g.24299G>T
  • NM_000832.7:c.1045G>T
  • NM_001185090.2:c.1108G>T
  • NM_001185091.2:c.1108G>T
  • NM_007327.4:c.1045G>TMANE SELECT
  • NM_021569.4:c.1045G>T
  • NP_000823.4:p.Ala349Ser
  • NP_001172019.1:p.Ala370Ser
  • NP_001172020.1:p.Ala370Ser
  • NP_015566.1:p.Ala349Ser
  • NP_067544.1:p.Ala349Ser
  • NC_000009.11:g.140052907G>T
  • NM_001185090.1:c.1108G>T
  • NM_007327.3:c.1045G>T
Protein change:
A349S
Links:
dbSNP: rs148008303
NCBI 1000 Genomes Browser:
rs148008303
Molecular consequence:
  • NM_000832.7:c.1045G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1108G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1108G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1045G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1045G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001155860CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Feb 1, 2017)
germlineclinical testing

Citation Link,

SCV001781883GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 20, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001155860.24

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001781883.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024